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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1838",
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"results": [
{
"created": "2020-04-19T21:02:22.334019+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A13 was added\ngene: SLC25A13 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A13 were set to Citrullinemia, type II, neonatal-onset, 605814 (3)",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:21.450233+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A1 was added\ngene: SLC25A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:20.364453+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC24A5 was added\ngene: SLC24A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC24A5 were set to Albinism, oculocutaneous, type VI, 113750 (3)",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:19.531548+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC22A5 was added\ngene: SLC22A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, 212140 (3)",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:18.745011+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC1A4 was added\ngene: SLC1A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:17.942931+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC19A3 was added\ngene: SLC19A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:16.927648+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC19A2 was added\ngene: SLC19A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:16.049857+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC17A5 was added\ngene: SLC17A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile, 269920 (3)",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:15.236351+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC16A2 was added\ngene: SLC16A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:14.131601+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC16A1 was added\ngene: SLC16A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC16A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC16A1 were set to Monocarboxylate transporter 1 deficiency, 616095 (3)",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:13.349648+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC13A5 was added\ngene: SLC13A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC13A5 were set to Epileptic encephalopathy, early infantile, 25, 615905 (3)",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:12.239494+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC12A6 was added\ngene: SLC12A6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:11.350817+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC12A5 was added\ngene: SLC12A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC12A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC12A5 were set to Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:10.551215+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC12A1 was added\ngene: SLC12A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, 601678 (3)",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:09.538656+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SKIV2L was added\ngene: SKIV2L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2, 614602 (3)",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:08.744461+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIL1 was added\ngene: SIL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800 (3)",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:07.846918+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHOX was added\ngene: SHOX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SHOX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SHOX were set to Langer mesomelic dysplasia, 249700 (3)",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:06.647438+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SH3TC2 was added\ngene: SH3TC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SH3TC2 were set to Charcot-Marie-Tooth disease, type 4C, 601596 (3)",
"entity_name": "SH3TC2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:05.751108+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SH3PXD2B was added\ngene: SH3PXD2B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SH3PXD2B were set to Frank-ter Haar syndrome, 249420 (3)",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:04.925973+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SH2D1A was added\ngene: SH2D1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, X-linked, 1, 308240 (3)",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:03.741319+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGSH was added\ngene: SGSH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3)",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:02.931357+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGPL1 was added\ngene: SGPL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGPL1 were set to Nephrotic syndrome 14, 617575 (3), Autosomal recessive",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:02.055604+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGO1 was added\ngene: SGO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGO1 were set to Chronic atrial and intestinal dysrhythmia, 616201 (3)",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:00.937223+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGCG was added\ngene: SGCG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700 (3)",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:02:00.050112+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGCD was added\ngene: SGCD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287 (3)",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:59.248083+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGCB was added\ngene: SGCB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E, 604286 (3)",
"entity_name": "SGCB",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:58.158836+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGCA was added\ngene: SGCA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D, 608099 (3)",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:57.342970+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SFTPB was added\ngene: SFTPB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:56.156718+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SETX was added\ngene: SETX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SETX were set to Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:55.331015+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERPINH1 was added\ngene: SERPINH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERPINH1 were set to Orofaciodigital syndrome VI, 277170 (3)",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:54.543100+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERPINF1 was added\ngene: SERPINF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI, 613982 (3)",
"entity_name": "SERPINF1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:53.348387+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERPINA1 was added\ngene: SERPINA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERPINA1 were set to Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:52.636965+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERAC1 was added\ngene: SERAC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:51.833370+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEPSECS was added\ngene: SEPSECS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D, 613811 (3)",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:50.745544+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEMA4A was added\ngene: SEMA4A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SEMA4A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SEMA4A were set to Cone-rod dystrophy 10, 610283 (3)",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:49.941812+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SELENON was added\ngene: SELENON was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SELENON were set to Muscular dystrophy, rigid spine, 1, 602771 (3)",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:49.139214+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC23B was added\ngene: SEC23B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II, 224100 (3)",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:48.043030+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC23A was added\ngene: SEC23A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SEC23A were set to Craniolenticulosutural dysplasia, 607812 (3)",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:47.259107+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SDHAF1 was added\ngene: SDHAF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDHAF1 were set to Mitochondrial complex II deficiency, 252011 (3)",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:46.437009+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SDCCAG8 was added\ngene: SDCCAG8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDCCAG8 were set to Bardet-Biedl syndrome 16, 615993 (3)",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:45.249082+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCYL1 was added\ngene: SCYL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, 616719 (3)",
"entity_name": "SCYL1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:44.446064+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCO2 was added\ngene: SCO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:43.552458+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCNN1B was added\ngene: SCNN1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I, 264350 (3)",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:42.441642+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCNN1A was added\ngene: SCNN1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, type I, 264350 (3)",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:41.545469+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN9A was added\ngene: SCN9A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SCN9A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCN9A were set to Insensitivity to pain, congenital, 243000 (3)",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:40.727662+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCARF2 was added\ngene: SCARF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCARF2 were set to Van den Ende-Gupta syndrome, 600920 (3)",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:39.444639+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCARB2 was added\ngene: SCARB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:38.548738+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SC5D was added\ngene: SC5D was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SC5D were set to Lathosterolosis, 607330 (3)",
"entity_name": "SC5D",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:37.450608+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SBF2 was added\ngene: SBF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SBF2 were set to Charcot-Marie-Tooth disease, type 4B2, 604563 (3)",
"entity_name": "SBF2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:36.649106+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SBDS was added\ngene: SBDS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SBDS were set to Shwachman-Diamond syndrome, 260400 (3)",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:35.851091+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SARS2 was added\ngene: SARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:34.652523+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SAR1B was added\ngene: SAR1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAR1B were set to Chylomicron retention disease, 246700 (3)",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:33.864315+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SAMHD1 was added\ngene: SAMHD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, 612952 (3)",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:32.952094+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SAMD9 was added\ngene: SAMD9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SAMD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAMD9 were set to Tumoral calcinosis, familial, normophosphatemic, 610455 (3)",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:31.758223+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SACS was added\ngene: SACS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:30.943465+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RYR1 was added\ngene: RYR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RYR1 were set to Minicore myopathy with external ophthalmoplegia, 255320 (3)",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:30.127929+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM5 was added\ngene: TMEM5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3)",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:29.061909+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RTTN was added\ngene: RTTN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RTTN were set to Polymicrogyria with seizures, 614833 (3)",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:28.240650+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RTN4IP1 was added\ngene: RTN4IP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:27.464057+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RTEL1 was added\ngene: RTEL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5, 615190 (3)",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:26.449869+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPH9 was added\ngene: RSPH9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary, 12, 612650 (3)",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:25.664314+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPH4A was added\ngene: RSPH4A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary, 11, 612649 (3)",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:24.951354+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPH1 was added\ngene: RSPH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RSPH1 were set to Ciliary dyskinesia, primary, 24, 615481 (3)",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:23.919701+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RRM2B was added\ngene: RRM2B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:23.045968+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS6KA3 was added\ngene: RPS6KA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:22.242450+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL10 was added\ngene: RPL10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:21.167920+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPGRIP1L was added\ngene: RPGRIP1L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPGRIP1L were set to Meckel syndrome 5, 611561 (3)",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:20.347804+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPGRIP1 was added\ngene: RPGRIP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPGRIP1 were set to Cone-rod dystrophy 13, 608194 (3)",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:19.554093+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPGR was added\ngene: RPGR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RPGR were set to Macular degeneration, X-linked atrophic, 300834 (3)",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:18.440865+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPE65 was added\ngene: RPE65 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPE65 were set to Leber congenital amaurosis 2, 204100 (3)",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:17.645460+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RP2 was added\ngene: RP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RP2 were set to Retinitis pigmentosa 2, 312600 (3)",
"entity_name": "RP2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:16.765469+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RORC was added\ngene: RORC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RORC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RORC were set to Immunodeficiency 42, 616622 (3), Autosomal recessive",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:15.621661+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ROR2 was added\ngene: ROR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive, 268310 (3)",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:14.836899+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ROGDI was added\ngene: ROGDI was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ROGDI were set to Kohlschutter-Tonz syndrome, 226750 (3)",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:14.047477+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ROBO3 was added\ngene: ROBO3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ROBO3 were set to Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:12.858949+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU4ATAC was added\ngene: RNU4ATAC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNU4ATAC were set to Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3)",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:12.139214+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASET2 was added\ngene: RNASET2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:11.351007+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASEH2C was added\ngene: RNASEH2C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3, 610329 (3)",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:10.349178+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASEH2B was added\ngene: RNASEH2B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, 610181 (3)",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:09.549183+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASEH2A was added\ngene: RNASEH2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4, 610333 (3)",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:08.762723+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RMRP was added\ngene: RMRP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RMRP were set to Cartilage-hair hypoplasia, 250250 (3)",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:07.739994+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RMND1 was added\ngene: RMND1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11, 614922 (3)",
"entity_name": "RMND1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:06.949623+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RLIM was added\ngene: RLIM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RLIM were set to Mental retardation, X-linked 61, 300978 (3), X-linked recessive",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:06.152072+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RIPK4 was added\ngene: RIPK4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RIPK4 were set to Popliteal pterygium syndrome 2, lethal type, 263650 (3)",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:05.050000+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RIN2 was added\ngene: RIN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RIN2 were set to Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:04.246059+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFXAP was added\ngene: RFXAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RFXAP were set to Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)",
"entity_name": "RFXAP",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:03.550924+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFXANK was added\ngene: RFXANK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RFXANK were set to MHC class II deficiency, complementation group B, 209920 (3)",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:02.346509+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFX6 was added\ngene: RFX6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RFX6 were set to Mitchell-Riley syndrome, 615710 (3)",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:01.545600+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFT1 was added\ngene: RFT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In, 612015 (3)",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:01:00.724172+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RETREG1 was added\ngene: RETREG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RETREG1 were set to Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:59.619806+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: REN was added\ngene: REN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: REN were set to Renal tubular dysgenesis, 267430 (3)",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:58.842586+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: REEP6 was added\ngene: REEP6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: REEP6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: REEP6 were set to Retinitis pigmentosa 77, 617304 (3), Autosomal recessive",
"entity_name": "REEP6",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:58.050697+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RECQL4 was added\ngene: RECQL4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RECQL4 were set to Baller-Gerold syndrome, 218600 (3)",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:56.953844+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RDH12 was added\ngene: RDH12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RDH12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712 (3)",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:56.242210+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RD3 was added\ngene: RD3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RD3 were set to Leber congenital amaurosis 12, 610612 (3)",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:55.549468+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RCBTB1 was added\ngene: RCBTB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RCBTB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RCBTB1 were set to Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:54.536604+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBM10 was added\ngene: RBM10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RBM10 were set to TARP syndrome, 311900 (3)",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:53.761664+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBCK1 was added\ngene: RBCK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:53.125436+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBBP8 was added\ngene: RBBP8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RBBP8 were set to Seckel syndrome 2, 606744 (3)",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:52.039063+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAX was added\ngene: RAX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAX were set to Microphthalmia, isolated 3, 611038 (3)",
"entity_name": "RAX",
"entity_type": "gene"
}
]
}